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epidermodysplasia verruciformis

MIM.226400 17q25

Wednesday 27 October 2010


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- Case 133



Definition: Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer.

Epidermodysplasia verruciformis (EV) results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5 and HPV8.

Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions.

Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas.

Epidermodysplasia verruciformis can be caused by mutations in either of 2 adjacent genes located on 17q25: TMC6 (MIM.605828) or TMC8 (MIM.605829).

The lesions often resemble verrucae planae. The mucous membranes, hair, and nails are not affected. Malignant degeneration, usually of the superficial basal cell type, is frequent.

Characteristic changes in the epidermal cells with peculiar vacuolization are observed. Ellis (1953) stated that this disorder occurs most frequently in Orientals.


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- Midana, A. Sulla questione dei rapporti tra epidermodysplasia verruciformis e verrucosi generalizzata. Dermatologica 99: 1-23, 1949. [PubMed: 18139272]
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- Ramoz, N., Rueda, L.-A., Bouadjar, B., Favre, M., Orth, G. A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. J. Invest. Derm. 112: 259-263, 1999. [PubMed: 10084299]

- Ramoz, N., Rueda, L.-A., Bouadjar, B., Montoya, L.-S., Orth, G., Favre, M. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nature Genet. 32: 579-581, 2002. [PubMed: 12426567]

- Ramoz, N., Taieb, A., Rueda, L.-A., Montoya, L.-S., Bouadjar, B., Favre, M., Orth, G. Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. J. Invest. Derm. 114: 1148-1153, 2000. [PubMed: 10844558]

- Sullivan, M., Ellis, F. A. Epidermodysplasia verruciformis (Lewandowsky and Lutz). Arch. Derm. Syph. 40: 422-432, 1939. (Not available in PubMed)

- Yabe, Y., Sadakane, H. Virus of epidermodysplasia verruciformis: electron microscopic and fluorescent antibody studies. J. Invest. Derm. 65: 324-330, 1975. [PubMed: 808576]